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Abstract: Background: Low serum levels of alkaline phosphatase (ALP) are a hallmark of hypophosphatasia. However, the
clinical significance and the underlying genetics of low ALP in unselected populations are unclear.
Methods: In order to clarify this issue, we performed a clinical, biochemical and genetic study of 42 individuals
(age range 20–77 yr) with unexplained low ALP levels.
Results: Nine hadmild hyperphosphatemia and three hadmild hypercalcemia. ALP levelswere inversely correlated
with serum calcium (r = -0.38, p = 0.012), pyridoxal phosphate (PLP; r = -0.51, p = 0.001) and urine
phosphoethanolamine (PEA; r = -0.49, p = 0.001). Although many subjects experienced minor complaints,
such as mild musculoskeletal pain, none hadmajor health problems.Mutations in ALPL were found in 21 subjects
(50%), including six novelmutations. All but one,were heterozygousmutations.Missensemutations were themost
common (present in 18 subjects; 86%) and themajority were predicted to have a damaging effect on protein activity.
The presence of amutated allelewas associated with tooth loss (48% versus 12%; p=0.04), slightly lower levels
of serumALP (p=0.002), higher levels of PLP (p b 0.0001) and PEA (p b 0.0001), aswell asmildly increased serum
phosphate (p=0.03). Ten individuals (24%) had PLP levels above the reference range; all carried a mutated allele.
Conclusion: One-half of adult individuals with unexplained low serum ALP carried an ALPL mutation. Although the
associated clinicalmanifestations are usuallymild, in approximately 50% of the cases, enzyme activity is lowenough
to cause substrate accumulation and may predispose to defects in calcified tissues.
Fuente: European Journal of Internal Medicine 29 (2016) 40?45
Fecha de publicación: 01/04/2016
Nº de páginas: 6
Tipo de publicación: Artículo de Revista
Consultar en UCrea Leer publicación
LEYRE RIANCHO ZARRABEITIA
MARIA TERESA GARCIA UNZUETA
TENORIO, JAIR A.
JUAN A. GOMEZ GERIQUE
RUIZ PÉREZ, VÍCTOR L.
HEATH, KAREN E.
JOSE ANTONIO RIANCHO MORAL